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Items: 1 to 20 of 234

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096260copy number variation1nstd102humanPathogenic GRCh37 chr20: 43,047,045-43,280,248 , GRCh38.p12 chr20: 44,418,405-44,651,607 ADA, HNF4A, 6 more genes
    nsv7095898copy number variation1nstd102humanPathogenic GRCh37 chr20: 42,223,339-44,638,757 , GRCh38.p12 chr20: 43,594,699-46,010,118 ADA, CCN5, 99 more genes
    nsv7095793copy number variation1nstd102humanUncertain significance GRCh37 chr20: 43,257,668-43,257,830 , GRCh38.p12 chr20: 44,629,027-44,629,189 ADA
    nsv7093134copy number variation1nstd102humanPathogenic GRCh38 chr20: 44,649,935-44,653,190 , GRCh37 chr20: 43,278,576-43,281,831 ADA
    nsv7062736inversion1nstd229human GRCh38 chr20: 36,955,253-45,585,462 , GRCh37.p13 chr20: 35,583,656-44,214,101 GDAP1L1, PI3, 177 more genes
    nsv7026407copy number variation1nstd229human GRCh38 chr20: 44,614,707-44,618,281 , GRCh37.p13 chr20: 43,243,348-43,246,922 ADA, PKIG
    nsv7025855copy number variation1nstd229human GRCh38 chr20: 44,626,901-44,630,800 , GRCh37.p13 chr20: 43,255,542-43,259,441 ADA
    nsv7025600copy number variation1nstd229human GRCh38 chr20: 44,630,222-44,640,580 , GRCh37.p13 chr20: 43,258,863-43,269,221 ADA
    nsv7023569copy number variation1nstd229human GRCh38 chr20: 44,628,160-44,660,337 , GRCh37.p13 chr20: 43,256,801-43,288,978 LINC01260, ADA
    nsv7020620copy number variation1nstd229human GRCh38 chr20: 44,646,401-44,650,000 , GRCh37.p13 chr20: 43,275,042-43,278,641 ADA
    nsv7019424copy number variation1nstd229human GRCh38 chr20: 44,646,461-44,649,668 , GRCh37.p13 chr20: 43,275,102-43,278,309 ADA
    nsv6598580inversion1nstd223human GRCh38 chr20: 44,627,200-44,628,449 , GRCh37.p13 chr20: 43,255,841-43,257,090 ADA
    nsv6596116inversion1nstd223human GRCh38 chr20: 36,955,253-45,585,469 , GRCh37.p13 chr20: 35,583,656-44,214,108 LOC101929863, LOC105372620, 177 more genes
    nsv6555199copy number variation1nstd223human GRCh38 chr20: 44,649,601-44,690,600 , GRCh37.p13 chr20: 43,278,242-43,319,241 ADA, LINC01260
    nsv6551783copy number variation1nstd223human GRCh38 chr20: 44,649,984-44,653,197 , GRCh37.p13 chr20: 43,278,625-43,281,838 ADA
    nsv6542411copy number variation1nstd223human GRCh38 chr20: 44,645,501-44,650,000 , GRCh37.p13 chr20: 43,274,142-43,278,641 ADA
    nsv6541803copy number variation1nstd223human GRCh38 chr20: 44,630,222-44,640,580 , GRCh37.p13 chr20: 43,258,863-43,269,221 ADA
    nsv6537709copy number variation1nstd223human GRCh38 chr20: 44,646,501-44,647,500 , GRCh37.p13 chr20: 43,275,142-43,276,141 ADA
    nsv6311235copy number variation1nstd102humanPathogenic GRCh37 chr20: 43,251,625-43,255,215 , GRCh38.p12 chr20: 44,622,984-44,626,574 ADA
    nsv6311085copy number variation1nstd102humanPathogenic GRCh37 chr20: 43,248,475-43,280,248 , GRCh38.p12 chr20: 44,619,834-44,651,607 ADA
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